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Exome sequencing as a tool for Mendelian disease gene discovery

Author
BAMSHAD, Michael J1 ; NG, Sarah B2 ; BIGHAM, Abigail W1 3 ; TABOR, Holly K1 4 ; EMOND, Mary J5 ; NICKERSON, Deborah A2 ; SHENDURE, Jay2
[1] Department of Pediatrics, University of Washington, Health Sciences Building RR349, 1959 N.E. Pacific Street, Seattle, Washington 98195-6320, United States
[2] Department of Genome Sciences, University of Washington, Foege Building, S-210 3720 15th Avenue N.E., Seattle, Washington 98195-5065, United States
[3] Department of Anthropology, University of Michigan, 222C West Hall, 1085 S. University Avenue, Ann Arbor, Michigan 48014, United States
[4] Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, M/S C9S-6, 1900 Ninth Avenue, Seattle, Washington 98101, United States
[5] Department of Biostatistics, University of Washington, Health Sciences Building F-658, 1959 N.E. Pacific Street, Seattle, Washington 98195-6320, United States
Source

Nature reviews. Genetics (Print). 2011, Vol 12, Num 11, pp 745-755, 11 p ; ref : 91 ref

ISSN
1471-0056
Scientific domain
Genetics
Publisher
Nature Publishing Group, London
Publication country
United Kingdom
Document type
Article
Language
English
Keyword (fr)
Article synthèse Gène Séquençage
Keyword (en)
Review Gene Sequencing
Keyword (es)
Artículo síntesis Gen Sequencing
Classification
Pascal
002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution

Discipline
Eukaryotes genetics. Biological and molecular evolution
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
24637042

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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